MBD4
MBD4 (Methyl-CpG-binding domain protein 4) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Leukaemia, Myeloproliferative neoplasms and 3 more.
Overview
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming PD1 Inhibitor. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.66, genetic literature 0.84).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · MBD4 (Methyl-CpG-binding domain protein 4) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Leukaemia, Myeloproliferative neoplasms and 3 more.
- 1 · What it is
MBD4 (Methyl-CpG-binding domain protein 4) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Leukaemia, Myeloproliferative neoplasms and 3 more.
- 2 · What goes wrong in cancer
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites.
- 3 · How drugs use it
No product in this corpus aims at MBD4 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
External identifiers
Sources: HGNC HGNC:6919 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O95243 (protein name, function text, keywords and locations (REST API)); CIViC gene MBD4 (1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)); Open Targets ENSG00000129071 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.71, acute myeloid leukaemia 0.53, myeloproliferative neoplasm 0.53, ocular melanoma 0.71, leukaemia 0.53 (GraphQL API, CC0))
Biology
Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. Location: Nucleus (UniProt). Locus 3q21.3 (HGNC).
- Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)
- Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)
- Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)
- Melanoma: Open Targets association 0.71 with melanoma (MONDO_0005105)
- Uveal melanoma: Open Targets association 0.71 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease
- Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword "DNA repair". Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"MBD4" OR ABSTRACT:"MBD4" OR TITLE:"methyl-CpG binding domain 4, DNA glycosylase" OR ABSTRACT:"methyl-CpG binding domain 4, DNA glycosylase" OR TITLE:"Methyl-CpG-binding domain protein 4" OR ABSTRACT:"Methyl-CpG-binding domain protein 4" OR TITLE:"MED1" OR ABSTRACT:"MED1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about MBD4, not a curated reading list.
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